A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2802145



Internal ID21247483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:52869943..52869943hg38UCSC Ensembl
chr1:53335615..53335615hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13682505
Samples
Known GenesZYG11A
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2802145
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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